Rare Disease Genomics Research Group - Stellenbosch University

It is a mistake to think that rare disease don't affect many people. The truth is that about 400 million people globally suffer from rare diseases - 4.2 million in South Africa. Approximately 80% of rare diseases are of genetic origin, with 50%-75% of cases affecting children. These diseases are most often chronic, involve multiple body systems and are progressive and debilitating. Most of these diseases also do not have treatments available, and those that do, are often not available in South Africa.

The rare disease community commonly faces the following challenges:

• Lack of accurate information and professional knowledge
• Feelings of isolation the lack of social support and mental health services
• Stigma and lack of understanding from others
• The prolonged diagnostic journey (it can take more than 5 years to get a diagnosis - if ever)

The Rare Disease Genomics Research Group is housed within the Biomedical Research Institute at the Tygerberg Medical Campus of Faculty of Medicine and Health Sciences, Stellenbosch University. Our multidisciplinary team includes experts in medicine, genetics, bioinformatics, social science and health economics, and our goal is to ensure that those suffering from rare diseases are given a diagnosis and appropriate care.